BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia

Sebastiani, P.; Farrell, J.J.; Alsultan, A.; Wang, S.; Edward, H.L.; Shappell, H.; Bae, H.; Milton, J.N.; Baldwin, C.T.; Al-Rubaish, A.M.; Naserullah, Z.; Al-Muhanna, F.; Alsuliman, A.; Patra, P.K.; Farrer, L.A.; Ngo, D.; Vathipadiekal, V.; Chui, D.H.K.; Al-Ali, A.K.; Steinberg, M.H.

doi:10.1016/j.bcmd.2015.01.001

Cited by 41Hemoglobinopathies and Related DisordersHemoglobin structure and functionBlood groups and transfusion

BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia

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Sebastiani, P., Farrell, J.J., Alsultan, A., Wang, S., Edward, H.L., Shappell, H., Bae, H., Milton, J.N. +12 more·2015·Blood Cells, Molecules, and Diseases

DOI 10.1016/j.bcmd.2015.01.001PMC PMC4341902

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Abstract

Background Fetal hemoglobin (HbF) levels in sickle cell anemia patients vary. We genotyped polymorphisms in the erythroid-specific enhancer of BCL11A to see if they might account for the very high HbF associated with the Arab-Indian (AI) haplotype and Benin haplotype of sickle cell anemia. Methods and Results Six BCL112A enhancer SNPs and their haplotypes were studied in Saudi Arabs from the Eastern Province and Indian patients with AI haplotype (HbF ~20%), African Americans (HbF ~7%), and Saudi Arabs from the Southwestern Province (HbF ~12%). Four SNPs (rs1427407, rs6706648, rs6738440, and rs7606173) and their haplotypes were consistently associated with HbF levels. The distributions of haplotypes differ in the 3 cohorts but not their genetic effects: the haplotype TCAG was associated with the lowest HbF level and the haplotype GTAC was associated with the highest HbF level and differences in HbF levels between carriers of these haplotypes in all cohorts was approximately 6%. Conclusions Common HbF BCL11A enhancer haplotypes in patients with African origin and AI sickle cell anemia have similar effects on HbF but they do not explain their differences in HbF.

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HbF differences among haplotypes were not associated with BCL11A polymorphisms.
“HbF differences among haplotypes were not associated with BCL11A polymorphisms.39”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [39]
The Discussion says BCL11A enhancer haplotype pairs do not appear to explain the HbF difference between Arab-Indian (AI) and African-origin HBB haplotype populations. But it also says BCL11A polymorphisms are associated with HbF within AI patients, so 'not associated' overstates the finding. (LLM, conf=0.86)
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Self-citation
Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype
Ngo, D., Bae, H. T., Steinberg, M. H., Paola Sebastiani, B., Solovieff, N., Baldwin, C. T., Melista, E., Safaya, S., Farrer, L. A., AlSuliman, A. M., et al. (2013) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2012.12.005 · Cited by 59 · see citing works
Self-citation
Polymorphisms Associated with the Arab-Indian Haplotype of Sickle Cell Anemia Are Candidate Fetal Hemoglobin Gene Modulators
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Self-citation
Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia
Sales, R. R., Nogueira, B. L., Belisário, A. R., Faria, G., Mendes, F. G., Viana, M. B., & Luizon, M. R. (2022) · Journal of Human Genetics · doi:10.1038/s10038-022-01079-0 · Cited by 6 · see citing works

Authors: Sebastiani, P., Farrell, J. J., Alsultan, A., Wang, S., Edward, H. L., Shappell, H., Bae, H., Milton, J. N., Baldwin, C. T., Al-Rubaish, A. M., Naserullah, Z., Al-Muhanna, F., Alsuliman, A., Patra, P. K., Farrer, L. A., Ngo, D., Vathipadiekal, V., Chui, D. H. K., Al-Ali, A. K., & Steinberg, M. H.
Affiliations: Boston University (US)
Oregon State University (US)
Maternity and Children's Hospital (SA)
Imam Abdulrahman Bin Faisal University (SA)
Pt. Jawahar Lal Nehru Memorial Medical College (IN)
ORCID: Farrell, J.J.
Edward, H.L.
Shappell, H.
Bae, H.
Al-Muhanna, F.
Farrer, L.A.
Ngo, D.
Chui, D.H.K.
Steinberg, M.H.
Venue: Blood Cells, Molecules, and Diseases
Publisher: Elsevier BV
Published: 2015-03
Volume: 54
Issue: 3
Pages: 224-230
ISSN: 1079-9796 (ISSN-L)
DOI: 10.1016/j.bcmd.2015.01.001
PMC: PMC4341902
OpenAlex: W2044485538
Semantic Scholar: c0b1b88d8942835f99e54943afb09bcb46156e53
Cited by: 41
References: 36
Citations by year: 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 4 · 2021: 4 · 2020: 3 · 2019: 4 · 2018: 5 · 2017: 5 · 2016: 7 · 2015: 4
FWCI: 3.92
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Blood Cells Molecules and Diseases (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: University of Dammam (SP 11/2011)
Office of Collaboration and Knowledge Exchange, University of Dammam (NIH/NHLBI HL101212, HL068970, HL87681)
National Institute of General Medical (NIGMS) Interdisciplinary Training Grant for Biostatisticians (T32 GM74905)
Training Grant for Hematology (5T32 HL007501)
Topics: Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Hemoglobin structure and function
Health Sciences › Medicine › Hematology › Blood groups and transfusion
Keywords: BCL11A, fetal hemoglobin, sickle cell disease, Benin haplotype, single nucleotide polymorphisms, African Americans
MeSH terms: Adolescent, Adult, Anemia, Sickle Cell, Black or African American, Carrier Proteins, Child, Female, Fetal Hemoglobin, Genotype, Haplotypes, Humans, Male, Middle Aged, Nuclear Proteins, Repressor Proteins, Arabs, Polymorphism, Single Nucleotide, Asian People, Young Adult

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BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia

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